Clinical and Medical Case Reports

2^nd Department of Paediatrics, School of Medicine, Aristotle University of Thessaloniki, AHEPA University General Hospital, Thessaloniki, Greece

Publications

• Case Report   
  Neonatal Marfan Syndrome with Novel Fibrillin-1 Gene Mutation: A Case Report
  Author(s): Evdoxia Sapountzi*, Alexandra Staberna, Styliani Fidani, Anastasia Keivanidou, Andreas Giannopoulos and Assimina Galli-Tsinopoulou
  
  Marfan syndrome is a rare multi-systemic genetic disorder primarily affecting connective tissue. It manifests prominently in musculoskeletal, orbital and cardiovascular systems. Neonatal Marfan syndrome (nMFS) is distinguished by the occurrence of premature death resulting from rapidly progressive congestive heart failure. This case report presents the clinical presentation of a newborn girl exhibiting dysmorphic features, bilateral myopia and severe cardiac involvement. Genetic analysis revealed a previously unidentified mutation at nucleotide 3964 (c.3346G > A) within intron 26 of the fibrillin-1 gene. This mutation is located in the neonatal region encompassing fibrillin-1 exon 24 to 32. The patient was initially treated with atenolol, followed by a combination of atenolol and irbesartan, which potentially contributed to a reduction in the rate of aortic root.. Read More»
  DOI: 10.37421/2684-4915.2023.7.276

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